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Brain Dev. 2002 Aug;24(5):266-8.

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.

Author information

1
Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, SA 5006, Australia. petter.stromme@rikshospitalet.no

Abstract

Clinical data from 50 mentally retarded (MR) males in nine X-linked MR families, syndromic and non-specific, with mutations (duplication, expansion, missense, and deletion mutations) in the Aristaless related homeobox gene, ARX, were analysed. Seizures were observed with all mutations and occurred in 29 patients, including one family with a novel myoclonic epilepsy syndrome associated with the missense mutation. Seventeen patients had infantile spasms. Other phenotypes included mild to moderate MR alone, or with combinations of dystonia, ataxia or autism. These data suggest that mutations in the ARX gene are important causes of MR, often associated with diverse neurological manifestations.

PMID:
12142061
[Indexed for MEDLINE]

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